Dystonia and parkinsonism in GM1 type 3 gangliosidosis
Identifieur interne : 000408 ( France/Analysis ); précédent : 000407; suivant : 000409Dystonia and parkinsonism in GM1 type 3 gangliosidosis
Auteurs : Emmanuel Roze [France] ; Eduard Paschke [Autriche] ; Nathalie Lopez [France] ; Thomas Eck [Autriche] ; Kunihiro Yoshida [Japon] ; Annie Maurel-Ollivier [France] ; Diane Doummar [France] ; Catherine Caillaud [France] ; Damien Galanaud [France] ; Thierry Billette De Villemeur [France] ; Marie Vidailhet [France] ; Anne Roubergue [France]Source :
- Movement Disorders [ 0885-3185 ] ; 2005-10.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Déficit.
English descriptors
- KwdEn :
- Adolescent, Adult, Alleles, Body Height, Bone Diseases, Developmental (radiography), Deficiency, Dystonia, Dystonia (diagnosis), Dystonia (etiology), Exons (genetics), Female, GM1 gangliosidosis, Galactosidase, Gangliosidosis, GM1 (complications), Gangliosidosis, GM1 (diagnosis), Gangliosidosis, GM1 (genetics), Humans, Lipids, Lysosomal storage disease, Nervous system diseases, Parkinsonian Disorders (etiology), Parkinsonism, Point Mutation (genetics), Videotape Recording, beta-Galactosidase (deficiency), beta-Galactosidase (genetics), beta‐galactosidase deficiency, beta‐galactosidosis, lysosomal storage disorder, parkinsonism, symptomatic dystonia.
- MESH :
- chemical , deficiency : beta-Galactosidase.
- complications : Gangliosidosis, GM1.
- diagnosis : Dystonia, Gangliosidosis, GM1.
- etiology : Dystonia, Parkinsonian Disorders.
- genetics : Exons, Gangliosidosis, GM1, Point Mutation, beta-Galactosidase.
- radiography : Bone Diseases, Developmental.
- Adolescent, Adult, Alleles, Body Height, Female, Humans, Videotape Recording.
Abstract
GM1 gangliosidosis is due to β‐galactosidase deficiency. Only patients with type 3 disease survive into adulthood and develop movement disorders. Clinical descriptions of this form are rare, particularly in non‐Japanese patients. We describe four new patients and systematically analyze all previous reports found by a literature search and contacts with the authors for additional information. Generalized dystonia remained the predominant feature throughout the disease course and was often associated with akinetic–rigid parkinsonism. GM1 gangliosidosis must be considered as a cause of early‐onset generalized dystonia, particularly in patients with short stature and skeletal dysplasia. © 2005 Movement Disorder Society
Url:
DOI: 10.1002/mds.20593
Affiliations:
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Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2005-10">2005-10</date><biblScope unit="vol">20</biblScope><biblScope unit="issue">10</biblScope><biblScope unit="page" from="1366">1366</biblScope><biblScope unit="page" to="1369">1369</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">B2AFB54BD521170AA0238518553420D9DC437FFE</idno><idno type="DOI">10.1002/mds.20593</idno><idno type="ArticleID">MDS20593</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Alleles</term><term>Body Height</term><term>Bone Diseases, Developmental (radiography)</term><term>Deficiency</term><term>Dystonia</term><term>Dystonia (diagnosis)</term><term>Dystonia (etiology)</term><term>Exons (genetics)</term><term>Female</term><term>GM1 gangliosidosis</term><term>Galactosidase</term><term>Gangliosidosis, GM1 (complications)</term><term>Gangliosidosis, GM1 (diagnosis)</term><term>Gangliosidosis, GM1 (genetics)</term><term>Humans</term><term>Lipids</term><term>Lysosomal storage disease</term><term>Nervous system diseases</term><term>Parkinsonian Disorders (etiology)</term><term>Parkinsonism</term><term>Point Mutation (genetics)</term><term>Videotape Recording</term><term>beta-Galactosidase (deficiency)</term><term>beta-Galactosidase (genetics)</term><term>beta‐galactosidase deficiency</term><term>beta‐galactosidosis</term><term>lysosomal storage disorder</term><term>parkinsonism</term><term>symptomatic dystonia</term></keywords><keywords scheme="MESH" type="chemical" qualifier="deficiency" xml:lang="en"><term>beta-Galactosidase</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Gangliosidosis, GM1</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Dystonia</term><term>Gangliosidosis, GM1</term></keywords><keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Dystonia</term><term>Parkinsonian Disorders</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Exons</term><term>Gangliosidosis, GM1</term><term>Point Mutation</term><term>beta-Galactosidase</term></keywords><keywords scheme="MESH" qualifier="radiography" xml:lang="en"><term>Bone Diseases, Developmental</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Alleles</term><term>Body Height</term><term>Female</term><term>Humans</term><term>Videotape Recording</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Dystonie</term><term>Déficit</term><term>Galactosidase</term><term>Gangliosidose GM1</term><term>Lipide</term><term>Lysosome pathologie</term><term>Parkinsonisme</term><term>Système nerveux pathologie</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Déficit</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">GM1 gangliosidosis is due to β‐galactosidase deficiency. Only patients with type 3 disease survive into adulthood and develop movement disorders. Clinical descriptions of this form are rare, particularly in non‐Japanese patients. We describe four new patients and systematically analyze all previous reports found by a literature search and contacts with the authors for additional information. Generalized dystonia remained the predominant feature throughout the disease course and was often associated with akinetic–rigid parkinsonism. GM1 gangliosidosis must be considered as a cause of early‐onset generalized dystonia, particularly in patients with short stature and skeletal dysplasia. © 2005 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Autriche</li><li>France</li><li>Japon</li></country><settlement><li>Paris</li></settlement></list><tree><country name="France"><noRegion><name sortKey="Roze, Emmanuel" sort="Roze, Emmanuel" uniqKey="Roze E" first="Emmanuel" last="Roze">Emmanuel Roze</name></noRegion><name sortKey="Billette De Villemeur, Thierry" sort="Billette De Villemeur, Thierry" uniqKey="Billette De Villemeur T" first="Thierry" last="Billette De Villemeur">Thierry Billette De Villemeur</name><name sortKey="Caillaud, Catherine" sort="Caillaud, Catherine" uniqKey="Caillaud C" first="Catherine" last="Caillaud">Catherine Caillaud</name><name sortKey="Doummar, Diane" sort="Doummar, Diane" uniqKey="Doummar D" first="Diane" last="Doummar">Diane Doummar</name><name sortKey="Galanaud, Damien" sort="Galanaud, Damien" uniqKey="Galanaud D" first="Damien" last="Galanaud">Damien Galanaud</name><name sortKey="Lopez, Nathalie" sort="Lopez, Nathalie" uniqKey="Lopez N" first="Nathalie" last="Lopez">Nathalie Lopez</name><name sortKey="Maurel Llivier, Annie" sort="Maurel Llivier, Annie" uniqKey="Maurel Llivier A" first="Annie" last="Maurel-Ollivier">Annie Maurel-Ollivier</name><name sortKey="Roubergue, Anne" sort="Roubergue, Anne" uniqKey="Roubergue A" first="Anne" last="Roubergue">Anne Roubergue</name><name sortKey="Roubergue, Anne" sort="Roubergue, Anne" uniqKey="Roubergue A" first="Anne" last="Roubergue">Anne Roubergue</name><name sortKey="Roze, Emmanuel" sort="Roze, Emmanuel" uniqKey="Roze E" first="Emmanuel" last="Roze">Emmanuel Roze</name><name sortKey="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie Vidailhet</name><name sortKey="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie Vidailhet</name></country><country name="Autriche"><noRegion><name sortKey="Paschke, Eduard" sort="Paschke, Eduard" uniqKey="Paschke E" first="Eduard" last="Paschke">Eduard Paschke</name></noRegion><name sortKey="Eck, Thomas" sort="Eck, Thomas" uniqKey="Eck T" first="Thomas" last="Eck">Thomas Eck</name></country><country name="Japon"><noRegion><name sortKey="Yoshida, Kunihiro" sort="Yoshida, Kunihiro" uniqKey="Yoshida K" first="Kunihiro" last="Yoshida">Kunihiro Yoshida</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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